Gorlin Cohen, syndrome

[MIM 305 620]

(frontometaphyseal dysplasia)

Very rare. Cranio-tubular bone disease. X-linked dominant transmission of a mutation in the FLNA gene on Xq28, coding for filamin a.

Clinical signs:

-         prominent supraorbital edges  (hyperostosis); hypertelorism with  downslanting palpebral fissure, micrognathia, broad nasal root

-         dental anomalies with malocclusion

-         skeletal dysplasia: large occipital foramen , often associated with anomalies of the cervical vertebrae, scoliosis, fusion of the carpal bones, absence of modelling of the metaphyseal zone of the long bones ( 'Erlenmeyer flask-shaped' tibia and femur)

-         progressive contracture of the joints with atrophy of the muscles of the hands, arms and legs 

-         progressive sensorineural deafness

-         sometimes: mental retardation, heart defect, subglottic stenosis


Anesthetic implications: 

Preoperative echocardiography, difficult intubation, hearing-impaired child


References : 

-        Mehta Y, Schou H. 
The anaesthetic management of an infant with frontometaphyseal dysplasia (Gorlin Cohen syndrome). 
Acta Anaesthesiol Scand 1988 ; 32 : 505-7.

-         Ganigara A, Nishtala M, Chandrika YRV, Chandrakala KR.  
Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome).
Indian J Anaesth 2014; 30: 297-8.


Updated: April 2019